Canonical Allele Identifier: CA2695213261
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387996_17388010del , CM000673.2:g.17387996_17388010del GRCh38
NC_000011.9:g.17409543_17409557del , CM000673.1:g.17409543_17409557del GRCh37
NC_000011.8:g.17366119_17366133del NCBI36
NG_012446.1:g.5656_5670del

Transcript Alleles

HGVS Amino-acid Change
ENST00000528992.2:c.-141_-127del ENSP00000436479.2:n.-141_-127del
ENST00000682350.1:c.-16-158_-16-144del ENSP00000508090.1:n.-16-158_-16-144del
ENST00000682764.1:c.-16-158_-16-144del ENSP00000506780.1:n.-16-158_-16-144del
ENST00000339994.5:c.88_102del MANE Select ENSP00000345708.4:p.Gln30_Arg34del
ENST00000339994.4:c.88_102del ENSP00000345708.4:p.Gln30_Arg34del
ENST00000526912.1:c.-17+14_-17+28del ENSP00000432729.1:n.-17+14_-17+28del
ENST00000528731.1:c.-16-158_-16-144del ENSP00000434755.1:n.-16-158_-16-144del
ENST00000528992.1:c.105_119del
NM_000525.3:c.88_102del NP_000516.3:p.Gln30_Arg34del
NM_001166290.1:c.-16-158_-16-144del NP_001159762.1:n.-16-158_-16-144del
XM_006718226.2:c.-16-158_-16-144del XP_006718289.1:n.-16-158_-16-144del
XR_930867.1:n.246_260del
XM_006718226.3:c.-16-158_-16-144del XP_006718289.1:n.-16-158_-16-144del
XM_017017680.1:c.-16-158_-16-144del XP_016873169.1:n.-16-158_-16-144del
NM_001166290.2:c.-16-158_-16-144del NP_001159762.1:n.-16-158_-16-144del
NM_001377296.1:c.-17+14_-17+28del NP_001364225.1:n.-17+14_-17+28del
NM_001377297.1:c.-16-158_-16-144del NP_001364226.1:n.-16-158_-16-144del
NM_000525.4:c.88_102del MANE Select NP_000516.3:p.Gln30_Arg34del